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| BabyScreen+ newborn screening v1.114 | GOT2 | Tommy Li Added phenotypes Developmental and epileptic encephalopathy 82, MIM# 618721 for gene: GOT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1154 | GOT2 | John Christodoulou reviewed gene: GOT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31422819, PMID: 33990986; Phenotypes: neonatal hypotonia, feeding difficulties, global developmental delay, severe ID, infantile seizures, absent speech, spastic tetraplegia, microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1131 | GOT2 | Zornitza Stark Marked gene: GOT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1131 | GOT2 | Zornitza Stark Gene: got2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1131 | GOT2 |
Zornitza Stark Tag treatable tag was added to gene: GOT2. Tag neurological tag was added to gene: GOT2. |
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| BabyScreen+ newborn screening v0.1131 | GOT2 | Zornitza Stark reviewed gene: GOT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 82, MIM# 618721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | GOT2 |
Zornitza Stark gene: GOT2 was added gene: GOT2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: GOT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GOT2 were set to Developmental and epileptic encephalopathy 82, MIM# 618721 |
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